List of Genetic Disorders

· Achromatopsia (inability to see color)

· Adrenal Hypoplasia Congenita (reduction in adrenal gland function)

· Adrenoleukodystrophy (progressive brain damage)

· Aicardi Syndrome (partial or complete absence of a key structure in brain)

· Albinism/Hypopigmentation (no melanin pigment in eyes, skin and hair)

· Alexander Disease (neurodegenerative disease)

· Alpers' Disease (degenerative disease of the central nervous system)

· Alpha-1 Antitrypsin Deficiency (decreased A1AT activity in blood & lungs)

· Alzheimer's (degenerative disease starting with memory loss)

· Amblyopia (poor or indistinct vision)

· Angelman Syndrome (intellectual and developmental delay, seizures)

· Anencephaly (absence of a major portion of the brain, skull, and scalp)

· Aniridia (underdevelopment of the eye's iris)

· Anophthalmia (congenital absence of one or both eyes)

· Ataxia Telangiectasia (immunodeficiency disorder)

· Autism (brain development disorder)

· Bardet-Biedl Syndrome (obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure)

· Barth Syndrome (metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue,
delayed growth)

· Batten Disease (fatal, autosomal recessive neurodegenerative disorder)

· Best's Disease (progressive vision loss)

· Bipolar Disorder (a category of mood disorders)

· Bloom Syndrome (breaks and rearrangements in the chromosomes)

· Branchio-Oto-Renal (BOR) Syndrome (autosomal disorder of kidneys, ears, and neck)

· Canavan Syndrome (progressive damage to nerve cells in the brain)

· Carnitine Deficiencies (metabolic disorders)

· Cerebral Palsy (physical disability in human development)

· Charcot-Marie-Tooth Disease (loss of muscle tissue and touch sensation)

· Cleft Lip/Cleft Palate (abnormal facial development during gestation)

· Coffin Lowry Syndrome (mental retardation and delayed development)

· Coloboma (hole in one of the structures of the eye)

· Color Blindness

· Congenital Heart Defects

· Congenital Hip Dysplasia (Dislocation)

· Connective Tissue Disorders

· Cooley's Anemia/ Thalassemia (formation of abnormal haemoglobin molecules)

· Corneal Dystrophy (non-inflammatory, bilateral opacity of cornea)

· Cornelia de Lange Syndrome (severe developmental anomalies)

· Cystic Fibrosis (progressive disability due to multisystem failure)

· Cystinosis (autosomal recessive disorder of the renal tubules)

· Developmental Disabilities

· Diabetes

· Down Syndrome (impairment of cognitive ability, physical growth & facial appearance)

· Duane Syndrome (inability of the eye to turn out)

· Ehlers-Danlos Syndrome (defect in collagen synthesis)

· Epidermolysis Bullosa (extremely fragile skin & recurrent blister formation)

· Familial Dysautonomia (disorder of the autonomic nervous system)

· Familial Mediterranean Fever (inflammatory disorder)

· Fanconi Anemia (short stature, skeletal anomalies, bone marrow failure)

· Fibrodysplasia Ossificans Progressiva (disease of the connective tissue)

· Fragile X Syndrome (X-linked mental retardation)

· G6PD (Glucose-6-Phosphate Dehydrogenase) Deficiency Anemia

· Galactosemia (inefficient metabolism of the sugar galactose0

· Gaucher Disease (deficiency of the enzyme glucocerebrosidase)

· Gilbert's Syndrome (high levels of unconjugated bilirubin in bloodstream)

· Glaucoma (diseases of the optic nerve)

· Hemochromatosis (excessive absorption of dietary iron)

· Hemoglobin C Disease (abnormal hemoglobin)

· Hemophilia/Bleeding Disorders (inefficient control over blood clotting or coagulation)

· Hirschsprung's Disease (enlargement of the colon)

· Homocystinuria (disorder of the metabolism of the amino acid methionine)

· Huntington's Disease (abnormal body movements)

· Hurler Syndrome (deficiency of alpha-L iduronidase)

· Klinefelter Syndrome (small testicles and reduced fertility)

· Krabbe Disease (fatal degenerative disorder of nervous system)

· Leber Congenital Amaurosis (loss of vision)

· Leukodystrophies (progressive degeneration of the white matter of brain)

· Long Q-T Syndrome (heart problem)

· Macular Degeneration (loss of central vision)

· Marfan Syndrome (disorder of the connective tissue)

· Marshall-Smith Syndrome (unusual accelerated skeletal maturation)

· McCune-Albright Syndrome (disorder of bones, hormones & skin pigmentation)

· Menkes Disease (disorder that affects copper levels in the body)

· Metabolic Disorders

· Mitochondrial Disease

· Mucolipidoses

· Mucopolysaccharide Disorders

· Muscular Dystrophy (progressive muscle weakness)

· Neonatal Onset Multisystem Inflammatory Disease (uncontrolled inflammation in multiple parts of the body)

· Neurofibromatosis (grow of tumors in nerve cells - Schwann cells)

· Niemann-Pick Disease (disorder affecting lipid metabolism)

· Noonan Syndrome (heart malformation, short stature, learning problems)

· Optic Atrophy (loss of some or most of the fibers of the optic nerve)

· Osteogenesis Imperfecta (no protein - collagen, or the ability to make it)

· Peutz-Jeghers Syndrome (benign hamartomatous polyps in gastrointestinal tract)

· Phenylketonuria (PKU) (deficiency in enzyme phenylalanine hydroxylase)

· Polycystic Kidney Disease (multiple cysts in both kidneys)

· Pseudoxanthoma Elasticum (fragmentation and mineralization of elastic fibers in tissues)

· Progeria (accelerated aging)

· Ptosis (drooping upper eyelid or breasts)

· Rentinitis Pigmentosa

· Scheie Syndrome (absence or malfunctioning of lysosomal enzymes)

· Schizophrenia (impairments in the perception or expression of reality)

· Severe Combined Immunodeficiency (SCID) (crippling of adaptive immune system)

· Sickle Cell Anemia (abnormal, rigid, sickle shape of red blood cells)

· Skeletal Dysplasias (abnormal bone and cartilage development)

· Smith-Magenis Syndrome (developmental disorder)

· Spherocytosis (production of bi-concave disk shaped red blood cells)

· Spina Bifida (incompletely formed spinal cord)

· Spinocerebellar Ataxia (progressive in-coordination of gait)

· Stargardt Disease (Macular Degeneration) (progressive vision loss)

· Stickler Syndrome (disorders affecting connective tissue, mainly collagen)

· Tay-Sachs Disease (usually affects nervous tissue of the brain)

· Treacher Collins Syndrome (craniofacial deformities)

· Tuberous Sclerosis (causes benign tumors in various body parts)

· Turner's Syndrome (only one X chromosome in each cell of a female)

· Urea Cycle Disorder (deficiency of one of the enzymes in the urea cycle causing irreversible brain damage and/or death)

· Usher's Syndrome (deafness and a gradual vision loss)

· Velocardiofacial Syndrome (deletion of a small piece of chromosome 22)

· von Hippel-Lindau Disease (abnormal growth of tumors in body parts)

· Werner Syndrome (premature aging)

· Williams Syndrome ("elfin" facial appearance, with a low nasal bridge)

· Xeroderma Pigmentosum (deficient ability to repair damage caused by ultraviolet (UV) light)

· XXX Syndrome (an extra X chromosome in each cell of a female)

· XYY Syndrome (an extra Y chromosome in each cell of a male)




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